scholarly journals IL-9 and IL-10 Single-Nucleotide Variants and Serum Levels in Age-Related Macular Degeneration in the Caucasian Population

2021 ◽  
Vol 2021 ◽  
pp. 1-13
Author(s):  
Alvita Vilkeviciute ◽  
Dzastina Cebatoriene ◽  
Loresa Kriauciuniene ◽  
Reda Zemaitiene ◽  
Rasa Liutkeviciene
Keyword(s):  
Macular Degeneration ◽  
Serum Levels ◽  
Age Related Macular Degeneration ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Exudative Amd ◽  
Age Related ◽  
Study Results ◽  
Pcr Method ◽  
A Minor

Considering the immunological impairment in age-related macular degeneration (AMD), we aimed to determine the associations of IL-9 rs1859430, rs2069870, rs11741137, rs2069885, and rs2069884 and IL-10 rs1800871, rs1800872, and rs1800896 polymorphisms and their haplotypes, as well as the serum levels of IL-9 and IL-10 with AMD. 1209 participants were enrolled in our study. SNPs were genotyped using TaqMan SNP genotyping assays by real-time PCR method. IL-9 and IL-10 serum levels were evaluated using ELISA kits. Our study results have shown that haplotypes A-G-C-G-G and G-A-T-A-T of IL-9 SNPs are associated with the decreased odds of early AMD occurrence ( p = 0.035 and p = 0.015 , respectively). A set of rare haplotypes was associated with the decreased odds of exudative AMD occurrence ( p = 0.033 ). Also, IL-10 serum levels were lower in exudative AMD than in controls ( p = 0.049 ), patients with early AMD ( p = 0.017 ), and atrophic AMD ( p = 0.008 ). Furthermore, exudative AMD patients with IL-10 rs1800896 CT and TT genotypes had lower IL-10 serum concentrations than those with wild-type (CC) genotype ( p = 0.048 ). In conclusion, our study suggests that IL-10 serum levels can be associated with a minor allele at IL-10 rs1800896 and exudative AMD. The haplotypes of IL-9 SNPs were also associated with the decreased odds of early and exudative AMD.

Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population

2021 ◽  
pp. 112067212110026
Author(s):  
Pablo Gili ◽  
Leyre Lloreda Martín ◽  
José-Carlos Martín-Rodrigo ◽  
Naon Kim-Yeon ◽  
Laura Modamio-Gardeta ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Gene Polymorphisms ◽  
Age Related Macular Degeneration ◽  
Spanish Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exudative Amd ◽  
Age Related ◽  
Increased Risk

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

Serum levels of ARMS2, COL8A1, RAD51B, and VEGF and their correlations in Age-Related Macular Degeneration

2021 ◽  
Vol 18 ◽  
Author(s):  
Priya Battu ◽  
Kaushal Sharma ◽  
Manjari Rain ◽  
Ramandeep Singh ◽  
Akshay Anand
Keyword(s):  
Macular Degeneration ◽  
Serum Levels ◽  
Cross Sectional Study ◽  
Statistical Correlation ◽  
Age Related Macular Degeneration ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Cross Sectional ◽  
Age Related ◽  
Study Results

Background: Many factors including genetic and environmental are responsible for the incidence of age-related macular degeneration (AMD). However, its pathogenesis has not been clearly elucidated yet. Objective: This study aimed to estimate the Age-Related Maculopathy Susceptibility 2 (ARMS2), Collagen type VIII Alpha 1 chain (COL8A1), Rad 51 paralog(RAD51B), and Vascular Endothelial Growth Factor (VEGF) protein levels in serum of AMD and control participants and to further investigate their correlation to understand AMD pathogenesis. Methods: For this cross-sectional study, 31 healthy control and 57 AMD patients were recruited from Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India. A blood sample was taken and serum was isolated from it. ELISA(enzyme-linked immunosorbent assay)was used for the estimation of proteins in the serum of patients. Results: ARMS2 and COL8A1 levels were significantly elevated in the AMD group than in the control group. The highest levels of ARMS2, COL8A1, and VEGF proteins were recorded for the wet AMD sub-group. The study results endorsed significant positive correlation between these following molecules; ARMS2 and COL8A1 (r=0.933, p<0.0001), ARMS2 and RAD51B (r=0.704, p<0.0001), ARMS2 and VEGF (r=0.925, p<0.0001), COL8A1 and RAD51B (r=0.736, p<0.0001), COL8A1 and VEGF (r=0.879, p<0.0001),and RAD51B and VEGF (r=0.691, p<0.0001). Conclusion: The ARMS2 and COL8A1 levels were significantly higher and RAD51B was significantly lower in the AMD group than controls. Also, a significant statistical correlation was detected between these molecules, indicating that their interaction may be involved in the pathogenesis of AMD.

Single Nucleotide Polymorphism and Serum Levels of VEGFR2 are Associated With Age Related Macular Degeneration

2012 ◽  
Vol 9 (4) ◽  
pp. 256-265 ◽  
Author(s):  
Neel Kamal Sharma ◽  
Amod Gupta ◽  
Sudesh Prabhakar ◽  
Ramandeep Singh ◽  
Suresh Sharma ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Macular Degeneration ◽  
Serum Levels ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Age Related

scholarly journals A Review of Completed and Ongoing Complement Inhibitor Trials for Geographic Atrophy Secondary to Age-Related Macular Degeneration

2021 ◽  
Vol 10 (12) ◽  
pp. 2580
Author(s):  
Omar A. Halawa ◽  
Jonathan B. Lin ◽  
Joan W. Miller ◽  
Demetrios G. Vavvas
Keyword(s):  
Macular Degeneration ◽  
Geographic Atrophy ◽  
Age Related Macular Degeneration ◽  
Western World ◽  
Complement Factor ◽  
Complement Protein ◽  
Pivotal Phase ◽  
Complement Inhibition ◽  
Exudative Amd ◽  
Age Related

Age-related macular degeneration (AMD) is a leading cause of irreversible blindness among older adults in the Western world. While therapies exist for patients with exudative AMD, there are currently no approved therapies for non-exudative AMD and its advanced form of geographic atrophy (GA). The discovery of genetic variants in complement protein loci with increased susceptibility to AMD has led to the investigation of the role of complement inhibition in AMD with a focus on GA. Here, we review completed and ongoing clinical trials evaluating the safety and efficacy of these studies. Overall, complement inhibition in GA has yielded mixed results. The inhibition of complement factor D has failed pivotal phase 3 trials. Studies of C3 and C5 inhibition meeting their primary endpoint are limited by high rates of discontinuation and withdrawal in the treatment arm and higher risks of conversion to exudative AMD. Studies evaluating other complement members (CFB, CFH, CFI and inhibitors of membrane attack complex—CD59) are ongoing and could offer other viable strategies.

scholarly journals The Spectrum of Central Choriocapillaris Abnormalities on Swept-Source Optical Coherence Tomography Angiography in the Fellow Eye of Unilateral Exudative Age-Related Macular Degeneration Patients: From Flow Deficits to Subclinical Non-Exudative Neovascularization

2021 ◽  
Vol 10 (12) ◽  
pp. 2658
Author(s):  
Alexis Khorrami Kashi ◽  
Eric Souied ◽  
Selim Fares ◽  
Enrico Borrelli ◽  
Vittorio Capuano ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Macular Degeneration ◽  
Optical Coherence Tomography Angiography ◽  
Clinical Findings ◽  
Age Related Macular Degeneration ◽  
Optical Coherence ◽  
Swept Source ◽  
Exudative Amd ◽  
Age Related ◽  
Fellow Eyes

We evaluated the spectrum of choriocapillaris (CC) abnormalities in the fellow eyes of unilateral exudative age-related macular degeneration (AMD) patients using swept-source optical coherence tomography angiography (SS-OCTA). Fellow eyes of unilateral exudative AMD patients were prospectively included between May 2018 and October 2018. Patients underwent a multimodal imaging including a SS-OCTA. Demographics and clinical findings were analyzed. The estimated prevalence of macular neovascularization (MNV) was computed. Number and size of flow deficits (FDs) and percentage of flow deficits (FD%) were computed on the compensated CC flow images with the Fiji software. We included 97 eyes of 97 patients (mean age was 80 ± 7.66 years, 39 males, 58 females). The prevalence of MNV in the studied eyes was 8.25% (8/97 eyes). In the 89 non-neovascular eyes, FD% averaged 45.84% ± 11.63%, with a corresponding total area of FDs of 4.19 ± 1.12 mm2. There was a higher prevalence of drusenoid pigment epithelial detachment in eyes with subclinical neovascularization (p = 0.021). Fellow eyes with unilateral exudative AMD encompassed a series of CC abnormalities, from FDs of the aging CC to subclinical non-exudative MNV.

scholarly journals Single Nucleotide Polymorphisms in MCP-1 and Its Receptor Are Associated with the Risk of Age Related Macular Degeneration

PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49905 ◽  
Author(s):  
Akshay Anand ◽  
Neel Kamal Sharma ◽  
Amod Gupta ◽  
Sudesh Prabhakar ◽  
Suresh Kumar Sharma ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related

scholarly journals Analysis of Single Nucleotide Polymorphisms in theNOS2AGene and Interaction with Smoking in Age-Related Macular Degeneration

2010 ◽  
Vol 74 (3) ◽  
pp. 195-201 ◽  
Author(s):  
Juan A. Ayala-Haedo ◽  
Paul J. Gallins ◽  
Patrice L. Whitehead ◽  
Stephen G. Schwartz ◽  
Jaclyn L. Kovach ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Age Related
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